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Valores de referencia de la actividad enzimática alfa-glucosidasa ácida linfocitaria

Revista del Laboratorio Clínico, 2016
Resumen Introduccion La enfermedad de Pompe, tambien denominada deficit de maltasa acida o glucogenosis tipo ii, es un trastorno metabolico autosomico recesivo caracterizado por un acumulo anormal de glucogeno lisosomal, causado por la deficiencia de la enzima α-glucosidasa acida (GAA). Segun la edad de inicio y el grado de afectacion organica, la
Borja del Castillo Figueruelo   +3 more
openaire   +2 more sources

Dos nuevas mutaciones en el gen que codifica la alfa-glucosidasa ácida en un adolescente con enfermedad de Pompe de inicio tardío

Revista de Neurología, 2013
INTRODUCTION. Glycogen storage disease type II, or Pompe disease, is a lysosomal disease with an autosomal recessive pattern of inheritance. Late-onset Pompe disease is a progressive metabolic myopathy caused by decreased activity of the enzyme acid alpha-glucosidase (GAA), which gives rise to reduced degradation and later accumulation of glycogen in ...
José Guevara Campos   +3 more
openaire   +2 more sources

Interferon Alfa-2b Adjuvant Therapy of High-Risk Resected Cutaneous Melanoma: The Eastern Cooperative Oncology Group Trial EST 1684

Journal of Clinical Oncology, 2023
PURPOSE Interferon alfa-2b (IFN alpha-2b) exhibits antitumor activity in metastatic melanoma and on this basis has been evaluated as an adjuvant therapy following surgery for deep primary (T4) or regionally metastatic (N1) melanoma.
J. M. Kirkwood   +5 more
semanticscholar   +1 more source

Efanesoctocog Alfa Prophylaxis for Children with Severe Hemophilia A.

New England Journal of Medicine
BACKGROUND Once-weekly efanesoctocog alfa provides high sustained factor VIII activity with superior bleeding prevention as compared with prestudy factor VIII prophylaxis in previously treated patients 12 years of age or older with severe hemophilia A ...
L. Malec   +20 more
semanticscholar   +1 more source

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